Muscle histopathology

Histopathology Laboratory

The Histopathology Laboratory is dedicated to the morphological identification and characterisation of genetic neuromuscular diseases in children and adults. It is part of the European Reference Network for Rare Neuromuscular Diseases (ERN EURO-NMD) and of the Nord-Est/Île-de-France Neuromuscular Rare Disease Reference Centre.

Diagnosis of neuromuscular diseases

We study muscle biopsies with the specific aim of diagnosing muscle disease. Some of the biopsies in our collection are re-analysed using new tools arising from research advances. This activity is very directly linked to the concrete needs of patients. Requests for analysis come from the Pitié-Salpêtrière Hospital Group and from other hospitals in the Île-de-France region.

Reference centre for the diagnosis of neuromuscular diseases

As a centre of expertise in neuromuscular diseases, we also respond to requests from other centres in France and abroad.

We are frequently called upon:

• for a further opinion on tests already carried out elsewhere: we regularly receive biopsy slides for one-off consultations arising from diagnostic difficulties (around sixty cases a year)
• to complete the analyses on muscle samples taken in other laboratories in Paris or elsewhere in France. These samples are analysed using specialised techniques that are not available in every laboratory
• for various French or foreign laboratories (for research samples)

Involvement in research projects

This laboratory in the Risler building is also designed to serve as a highly specialised technical facility for the development of basic and therapeutic research projects requiring such expertise. The various research projects have their own funding and their own staff. The aim of this work is to contribute to the characterisation of new or as yet undefined neuromuscular diseases.

Training activities

There is a demand, from teams with an interest in the study of muscle diseases, to undertake or improve their training in the analysis of muscle biopsies (for example, the myology study group meetings held at the Institute of Myology, etc.).

For many years we have hosted physicians for training placements in the diagnosis of muscle diseases and/or for postdoctoral placements, as well as technicians for training in biopsy sampling and processing techniques.